Myopia Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A refractive error characterized by the inability to see farther objects clearly. (Human Disease Ontology, DOID_11830)
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110 genes associated with the Myopia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ACAN aggrecan
ACTC1 actin, alpha, cardiac muscle 1
ARMS2 age-related maculopathy susceptibility 2
BDNF brain-derived neurotrophic factor
BICC1 BicC family RNA binding protein 1
BMP2 bone morphogenetic protein 2
BMP2K BMP2 inducible kinase
BMP3 bone morphogenetic protein 3
BMP4 bone morphogenetic protein 4
C1ORF110 chromosome 1 open reading frame 110
C1QTNF9B C1q and tumor necrosis factor related protein 9B
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CFH complement factor H
CFI complement factor I
CHRM1 cholinergic receptor, muscarinic 1
COL11A1 collagen, type XI, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL8A1 collagen, type VIII, alpha 1
CRYBA4 crystallin, beta A4
CTNND2 catenin (cadherin-associated protein), delta 2
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DCN decorin
DEPDC4 DEP domain containing 4
EGR1 early growth response 1
EPYC epiphycan
FAM19A1 family with sequence similarity 19 (chemokine (C-C motif)-like), member A1
FBN1 fibrillin 1
FGF10 fibroblast growth factor 10
FGF2 fibroblast growth factor 2 (basic)
FMOD fibromodulin
GC group-specific component (vitamin D binding protein)
GJD2 gap junction protein, delta 2, 36kDa
GRIA4 glutamate receptor, ionotropic, AMPA 4
GRM6 glutamate receptor, metabotropic 6
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HSD17B1 hydroxysteroid (17-beta) dehydrogenase 1
HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
HTRA1 HtrA serine peptidase 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IRX1 iroquois homeobox 1
IRX2 iroquois homeobox 2
KCNQ5 potassium channel, voltage gated KQT-like subfamily Q, member 5
LAMA1 laminin, alpha 1
LAMA2 laminin, alpha 2
LUM lumican
MET MET proto-oncogene, receptor tyrosine kinase
MFRP membrane frizzled-related protein
MIPEP mitochondrial intermediate peptidase
MIR100HG mir-100-let-7a-2 cluster host gene
MIR4660 microRNA 4660
MMP1 matrix metallopeptidase 1
MMP10 matrix metallopeptidase 10
MMP11 matrix metallopeptidase 11
MMP13 matrix metallopeptidase 13
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP8 matrix metallopeptidase 8
MMP9 matrix metallopeptidase 9
MSRA methionine sulfoxide reductase A
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
MYP10 myopia 10
MYP15 myopia 15
MYP2 myopia 2 (high grade, autosomal dominant)
MYP3 myopia 3 (high grade, autosomal dominant)
MYP4 myopia 4 (high grade, autosomal dominant)
NYX nyctalopin
OPTC opticin
PAPD7 PAP associated domain containing 7
PAX6 paired box 6
PDE11A phosphodiesterase 11A
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PPFIA2 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2
PPP1R3B protein phosphatase 1, regulatory subunit 3B
PRIMPOL primase and polymerase (DNA-directed)
PRSS56 protease, serine, 56
PTPRR protein tyrosine phosphatase, receptor type, R
RARA retinoic acid receptor, alpha
RARB retinoic acid receptor, beta
RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1
RDH5 retinol dehydrogenase 5 (11-cis/9-cis)
RDH8 retinol dehydrogenase 8 (all-trans)
SCO2 SCO2 cytochrome c oxidase assembly protein
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SH3GL2 SH3-domain GRB2-like 2
SHISA6 shisa family member 6
SIX6 SIX homeobox 6
SNTB1 syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)
SOX2 SRY (sex determining region Y)-box 2
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGIF1 TGFB-induced factor homeobox 1
TIMP1 TIMP metallopeptidase inhibitor 1
TOX thymocyte selection-associated high mobility group box
UHRF1BP1L UHRF1 binding protein 1-like
UMODL1 uromodulin-like 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VIPR2 vasoactive intestinal peptide receptor 2
ZBTB14 zinc finger and BTB domain containing 14
ZC3H11B zinc finger CCCH-type containing 11B pseudogene
ZEB2 zinc finger E-box binding homeobox 2
ZIC2 Zic family member 2
ZNF644 zinc finger protein 644